Dystrophin pre-mRNA exon 44 splice junction (DMD exon 44 splice junction)

The dystrophin pre-mRNA exon 44 splice junction is a critical RNA sequence at the boundary of exon 44 in the dystrophin gene that regulates the inclusion or exclusion of exon 44 during splicing. Mutations or deletions affecting this junction can disrupt the reading frame, resulting in a truncated and non-functional dystrophin protein, the cause of Duchenne muscular dystrophy. Therapeutic strategies, such as antisense oligonucleotide-mediated exon skipping and CRISPR-Cas9 gene editing, target the exon 44 splice junction to restore the reading frame and enable production of a shorter but functional dystrophin protein. This approach has led to the development of experimental drugs targeting this splice region to treat eligible DMD patients.

Other names

Exon 44 splice site of dystrophin pre-mRNADMD exon 44 splice junctionDystrophin exon 44 acceptor/donor site

Exon skipping: Antisense oligonucleotides (ASOs/PMOs) bind to the splice junction, mask splicing signals, and induce exclusion (“skipping”) of exon 44 during mRNA maturation, restoring the functional reading frame and enabling truncated dystrophin production. CRISPR-Cas9 genome editing: Enables excision or reframing to restore proper splicing between exons.